Results 51 to 60 of about 14,262 (208)

Compound Heterozygous Variants in ZSWIM7 Gene Linked to Infertility and Its Role in Gonadal Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study aims to elucidate the role of the ZSWIM7 gene in the etiology of infertility, focusing on its potential association with premature ovarian insufficiency and azoospermia. We investigated an 18‐year‐old female patient who presented with primary amenorrhea, hypoplasia of the uterus and ovaries, Tanner stage II breast and pubic hair ...
Denise M. Christofolini, Guilherme Pinn, Thainá Vilella, Maria I. Melaragno, Mariana Moysés‐Oliveira, Luciano Pompei, Rare Genomes Project Consortium, Bianca Bianco, Caio P. Barbosa   +8 more
wiley   +1 more source

Elevated FMR1-mRNA and lowered FMRP – A double-hit mechanism for psychiatric features in men with FMR1 premutations [PDF]

Translational Psychiatry, 2020
AbstractFragile X syndrome (FXS) is caused by a full mutation of the FMR1 gene (>200 CGG repeats and subsequent methylation), such that there is little or no FMR1 protein (FMRP) produced, leading to intellectual disability (ID). Individuals with the premutation allele (55–200 CGG repeats, generally unmethylated) have elevated FMR1 mRNA levels, a ...
Flora Tassone, Susan Bacalman, Tri Indah Winarni, Ana Maria Cabal-Herrera, Ana Maria Cabal-Herrera, Louise W. Gane, Paul J. Hagerman, Andrea Schneider, Randi J Hagerman   +8 more
openaire   +4 more sources

Modeling Fragile X Syndrome: Characterizing Fmr1 Gene Knockout Mice across Genotype, Behavior, and Morphology

Neurological Sciences and Neurophysiology
Objective: Fragile X syndrome (FXS) is a hereditary condition resulting from dynamic mutations in the Fmr1 gene, leading to reduced or absent fragile X mental retardation protein (FMRP). Although molecular genetic diagnostics for FXS have advanced, there
Yonghua Liao, Junjie Liu, Jinyuan Zhang, Da Chen, Yifan Liu, Zhuolin Li, Hao Su, Jiaye Tang, Shengqiang Chen   +8 more
doaj   +1 more source

Deficient Sleep in Mouse Models of Fragile X Syndrome

Frontiers in Molecular Neuroscience, 2017
In patients with fragile X syndrome (FXS), sleep problems are commonly observed but are not well characterized. In animal models of FXS (dfmr1 and Fmr1 knockout (KO)/Fxr2 heterozygote) circadian rhythmicity is affected, but sleep per se has not been ...
R. Michelle Saré, Lee Harkless, Merlin Levine, Anita Torossian, Carrie A. Sheeler, Carolyn B. Smith   +5 more
doaj   +1 more source

BRCA1/2 mutations appear embryo-lethal unless rescued by low (CGG n<26) FMR1 sub-genotypes: explanation for the "BRCA paradox"? [PDF]

PLoS ONE, 2012
BRCA1/2 mutations and recently described constitutional FMR1 genotypes have, independently, been associated with prematurely diminished ovarian reserve. Whether they interrelate in distribution, and whether observed effects of BRCA1/2 and FMR1 on ovaries
Andrea Weghofer, Muy-Kheng Tea, David H Barad, Ann Kim, Christian F Singer, Klaus Wagner, Norbert Gleicher   +6 more
doaj   +1 more source

Depression Symptom Trajectories in Mothers With the FMR1 Premutation Vary by CGG Repeat Length: A Longitudinal Study of 73 Women Spanning 20–75 Years of Age

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (FXpm) are at heightened genetic vulnerability for depression, with risk compounded by the stressors of parenting a disabled child. Although risk factors persist as FXpm women age, depression in FXpm mothers during midlife and old age is poorly characterized. This study used an accelerated longitudinal design to
Jessica Klusek, Lauren Jenner, Abigail L. Hogan, Laura Friedman, Elizabeth Berry‐Kravis, Flora Tassone, Tatyana Adayev, Amanda J. Fairchild, Jane E. Roberts   +8 more
wiley   +1 more source

Longitudinal Analysis of Neuroradiological Biomarkers for Fragile X‐Associated Tremor/Ataxia Syndrome and Implications for Clinical Trials

Annals of Neurology, EarlyView.
Objective The objective of this study was to show the capacity of structural brain magnetic resonance imaging (MRI) measures to serve as monitoring biomarkers for Fragile X‐Associated Tremor/Ataxia Syndrome (FXTAS). Methods From 2 longitudinal studies of male FMR1 premutation carriers, 2 brain MRI scans were selected from each participant, collected ...
David Hessl, Jun Yi Wang, Glenda Espinal, Ellery Santos, Flora Tassone, Randi J. Hagerman, Susan M. Rivera   +6 more
wiley   +1 more source

Multi‐omics analysis reveals discordant proteome and transcriptome responses in larval guts of Frankliniella occidentalis infected with an orthotospovirus

Insect Molecular Biology, EarlyView.
Tomato spotted wilt virus modulated the abundance of gut proteins in larval thrips, most notably manifested as a predominant down‐regulation in first instar larvae. Gut‐expressed protein and cognate transcript abundance were moderately correlated across the tissue system; however, the virus effect varied widely at transcriptional and translational ...
Jinlong Han, Dorith Rotenberg
wiley   +1 more source

Role of CTCF protein in regulating FMR1 locus transcription.

PLoS Genetics, 2013
Fragile X syndrome (FXS), the leading cause of inherited intellectual disability, is caused by epigenetic silencing of the FMR1 gene, through expansion and methylation of a CGG triplet repeat (methylated full mutation). An antisense transcript (FMR1-AS1),
Stella Lanni, Martina Goracci, Loredana Borrelli, Giorgia Mancano, Pietro Chiurazzi, Umberto Moscato, Fabrizio Ferrè, Manuela Helmer-Citterich, Elisabetta Tabolacci, Giovanni Neri   +9 more
doaj   +1 more source

Children With Fragile X Syndrome Display a Switch Towards Fast Fibres in Their Recruitment Strategy During Gait

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Fragile X Syndrome (FXS) is a genetic disorder caused by the lack of FMRP, a crucial protein for brain development and function. FMR1 mutations are categorized into premutation and full mutation (FXSFull), with somatic mosaicism (FXSMos) modulating the FXS phenotype.
Fabiola Spolaor, Federica Beghetti, Weronika Piatkowska, Annamaria Guiotto, Roberta Polli, Elisa Bettella, Valentina Liani, Elisa di Giorgio, Zimi Sawacha   +8 more
wiley   +1 more source